Imprinting disorders

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Imprinting disorders. / Eggermann, Thomas; Monk, David; de Nanclares, Guiomar Perez; Kagami, Masayo; Giabicani, Eloïse; Riccio, Andrea; Tümer, Zeynep; Kalish, Jennifer M.; Tauber, Maithé; Duis, Jessica; Weksberg, Rosanna; Maher, Eamonn R.; Begemann, Matthias; Elbracht, Miriam.

I: Nature Reviews Disease Primers, Bind 9, 33, 2023.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Eggermann, T, Monk, D, de Nanclares, GP, Kagami, M, Giabicani, E, Riccio, A, Tümer, Z, Kalish, JM, Tauber, M, Duis, J, Weksberg, R, Maher, ER, Begemann, M & Elbracht, M 2023, 'Imprinting disorders', Nature Reviews Disease Primers, bind 9, 33. https://doi.org/10.1038/s41572-023-00443-4

APA

Eggermann, T., Monk, D., de Nanclares, G. P., Kagami, M., Giabicani, E., Riccio, A., Tümer, Z., Kalish, J. M., Tauber, M., Duis, J., Weksberg, R., Maher, E. R., Begemann, M., & Elbracht, M. (2023). Imprinting disorders. Nature Reviews Disease Primers, 9, [33]. https://doi.org/10.1038/s41572-023-00443-4

Vancouver

Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A o.a. Imprinting disorders. Nature Reviews Disease Primers. 2023;9. 33. https://doi.org/10.1038/s41572-023-00443-4

Author

Eggermann, Thomas ; Monk, David ; de Nanclares, Guiomar Perez ; Kagami, Masayo ; Giabicani, Eloïse ; Riccio, Andrea ; Tümer, Zeynep ; Kalish, Jennifer M. ; Tauber, Maithé ; Duis, Jessica ; Weksberg, Rosanna ; Maher, Eamonn R. ; Begemann, Matthias ; Elbracht, Miriam. / Imprinting disorders. I: Nature Reviews Disease Primers. 2023 ; Bind 9.

Bibtex

@article{794c7a17bfee46d5bd5136b51fdf1e07,

title = "Imprinting disorders",

abstract = "Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi syndrome, Angelman syndrome and Beckwith–Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are heterogeneous and the key clinical manifestations are often non-specific, rendering diagnosis difficult. Four types of genomic and imprinting defect (ImpDef) affecting differentially methylated regions (DMRs) can cause ImpDis. These defects affect the monoallelic and parent-of-origin-specific expression of imprinted genes. The regulation within DMRs as well as their functional consequences are mainly unknown, but functional cross-talk between imprinted genes and functional pathways has been identified, giving insight into the pathophysiology of ImpDefs. Treatment of ImpDis is symptomatic. Targeted therapies are lacking owing to the rarity of these disorders; however, personalized treatments are in development. Understanding the underlying mechanisms of ImpDis, and improving diagnosis and treatment of these disorders, requires a multidisciplinary approach with input from patient representatives.",

author = "Thomas Eggermann and David Monk and {de Nanclares}, {Guiomar Perez} and Masayo Kagami and Elo{\"i}se Giabicani and Andrea Riccio and Zeynep T{\"u}mer and Kalish, {Jennifer M.} and Maith{\'e} Tauber and Jessica Duis and Rosanna Weksberg and Maher, {Eamonn R.} and Matthias Begemann and Miriam Elbracht",

note = "Publisher Copyright: {\textcopyright} 2023, Springer Nature Limited.",

year = "2023",

doi = "10.1038/s41572-023-00443-4",

language = "English",

volume = "9",

journal = "Nature Reviews. Disease Primers",

issn = "2056-676X",

publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Imprinting disorders

AU - Eggermann, Thomas

AU - Monk, David

AU - de Nanclares, Guiomar Perez

AU - Kagami, Masayo

AU - Giabicani, Eloïse

AU - Riccio, Andrea

AU - Tümer, Zeynep

AU - Kalish, Jennifer M.

AU - Tauber, Maithé

AU - Duis, Jessica

AU - Weksberg, Rosanna

AU - Maher, Eamonn R.

AU - Begemann, Matthias

AU - Elbracht, Miriam

PY - 2023

Y1 - 2023

N2 - Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi syndrome, Angelman syndrome and Beckwith–Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are heterogeneous and the key clinical manifestations are often non-specific, rendering diagnosis difficult. Four types of genomic and imprinting defect (ImpDef) affecting differentially methylated regions (DMRs) can cause ImpDis. These defects affect the monoallelic and parent-of-origin-specific expression of imprinted genes. The regulation within DMRs as well as their functional consequences are mainly unknown, but functional cross-talk between imprinted genes and functional pathways has been identified, giving insight into the pathophysiology of ImpDefs. Treatment of ImpDis is symptomatic. Targeted therapies are lacking owing to the rarity of these disorders; however, personalized treatments are in development. Understanding the underlying mechanisms of ImpDis, and improving diagnosis and treatment of these disorders, requires a multidisciplinary approach with input from patient representatives.

AB - Imprinting disorders (ImpDis) are congenital conditions that are characterized by disturbances of genomic imprinting. The most common individual ImpDis are Prader–Willi syndrome, Angelman syndrome and Beckwith–Wiedemann syndrome. Individual ImpDis have similar clinical features, such as growth disturbances and developmental delay, but the disorders are heterogeneous and the key clinical manifestations are often non-specific, rendering diagnosis difficult. Four types of genomic and imprinting defect (ImpDef) affecting differentially methylated regions (DMRs) can cause ImpDis. These defects affect the monoallelic and parent-of-origin-specific expression of imprinted genes. The regulation within DMRs as well as their functional consequences are mainly unknown, but functional cross-talk between imprinted genes and functional pathways has been identified, giving insight into the pathophysiology of ImpDefs. Treatment of ImpDis is symptomatic. Targeted therapies are lacking owing to the rarity of these disorders; however, personalized treatments are in development. Understanding the underlying mechanisms of ImpDis, and improving diagnosis and treatment of these disorders, requires a multidisciplinary approach with input from patient representatives.

U2 - 10.1038/s41572-023-00443-4

DO - 10.1038/s41572-023-00443-4

M3 - Journal article

C2 - 37386011

AN - SCOPUS:85163844082

VL - 9

JO - Nature Reviews. Disease Primers

JF - Nature Reviews. Disease Primers

SN - 2056-676X

M1 - 33

ER -

ID: 366980680